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The Lancet. Neurology|June 17, 2026
Safety and efficacy of levacetylleucine in ataxia-telangiectasia: a phase 3, randomised, double-blind, placebo-controlled crossover trialKyriakos Martakis, Tatiana Bremova-Ertl, Clare Bolton, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|December 20, 2013
Neurological manifestations of influenza infection in children and adults: results of a National British Surveillance StudyAnu Goenka, Benedict D Michael, Elizabeth Ledger, et al.
Neurology|February 28, 2018
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoyaSara C Tho-Calvi, Dominic Thompson, Dawn Saunders, et al.
Neuromuscular Disorders : NMD|March 9, 2010
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutationsFatemeh Geranmayeh, Emma Clement, Lucy H Feng, et al.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
The Lancet. Neurology|November 17, 2023
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trialNatasha E Schoeler, Louise Marston, Laura Lyons, et al.
Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
Brain : a Journal of Neurology|November 21, 2013
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2A Reghan Foley, Manoj P Menezes, Amelie Pandraud, et al.
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